WormBase Tree Display for Variation: WBVar00275339

WBVar00275339 Evidence: Paper_evidence: WBPaper00002918
  Name: Public_name: y250
    Other_name: C18A3.6a.1:c.536C>T
      CE23555:p.Ser179Leu
      C18A3.6b.1:c.494C>T
      CE20518:p.Ser165Leu
    HGVSg: CHROMOSOME_II:g.5722772G>A
  Sequence_details: SMap: S_parent: Sequence: C18A3
    Flanking_sequences: taattttaggtttggaattcttcgaaacat agccaaggagaacattaatgtaaaggcagt
    Mapping_target: C18A3
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00002918
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029038
    Laboratory: TY
    Status: Live
  Affects: Gene: WBGene00004267
    Transcript: C18A3.6a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C18A3.6a.1:c.536C>T
        HGVSp: CE23555:p.Ser179Leu
        cDNA_position: 738
        CDS_position: 536
        Protein_position: 179
        Exon_number: 6/8
        Codon_change: tCa/tTa
        Amino_acid_change: S/L
      C18A3.6b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C18A3.6b.1:c.494C>T
        HGVSp: CE20518:p.Ser165Leu
        cDNA_position: 494
        CDS_position: 494
        Protein_position: 165
        Exon_number: 4/6
        Codon_change: tCa/tTa
        Amino_acid_change: S/L
  Genetics: Interpolated_map_position: II -0.959376
    Mapping_data: In_multi_point: 3342
  Description: Phenotype: WBPhenotype:0000006 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Egl defects Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000017 Paper_evidence: WBPaper00044486
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson8905
        Remark: Ric Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000164 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000353 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000643 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: mild Unc Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001434 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Che Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001612 Paper_evidence: WBPaper00044486
        Curator_confirmed: WBPerson8905
      WBPhenotype:0001639 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002284 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002288 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002293 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002295 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002300 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002301 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002308 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002312 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002321 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002336 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002347 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004022 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004023 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
  Reference: WBPaper00043908
    WBPaper00014764
    WBPaper00022070
    WBPaper00044486
  Method: Substitution_allele